Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000577368 | SCV000798462 | likely pathogenic | Cystic fibrosis | 2018-03-12 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000577368 | SCV000886333 | pathogenic | Cystic fibrosis | 2018-11-05 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000577368 | SCV002623584 | pathogenic | Cystic fibrosis | 2015-08-19 | criteria provided, single submitter | clinical testing | The p.Q1281* variant (also known as c.3841C>T, c.3973C>T or p.Q1281X) located in coding exon 23 of the CFTR gene, results from a C to T substitution at nucleotide position 3841. This changes the amino acid from a glutamine to a stop codon within coding exon 23. This pathogenic alteration was observed in trans with deltaF508 in a patient with severe disease, including pancreatic and lung involvement (Casals T et al. Hum Genet. 1997;101(3):365-370). In addition to the clinical data, since premature stop codons are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294). |
Clin |
RCV000577368 | SCV000679091 | not provided | Cystic fibrosis | no assertion provided | literature only |